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Science 329 (5987): 40-41

Copyright © 2010 by the American Association for the Advancement of Science


Genes for High Altitudes

Jay F. Storz

During the past 100,000 to 200,000 years, anatomically modern humans successfully colonized a diverse range of environments across the planet. Some of the most extreme of these environments are found on the high-altitude plateaus of Central Asia and the Andes. The Tibetan Plateau appears to have been inhabited for ~25,000 years, and permanent settlements have been established at elevations of 3500 to 4500 m (1, 2). Residents of these lofty altitudes descend from a long line of highland ancestors who lived long enough to reproduce in spite of the physiological challenges associated with chronic oxygen deprivation. Thus, studies of indigenous high-altitude residents provide the opportunity to identify genes that may have played a role in hypoxia adaptation. On pages 72 and 75 of this issue, Simonson et al. (3) and Yi et al. (4), respectively, combine genomic and candidate-gene analyses to identify the genetic basis of high-altitude adaptation in Tibetans. Together with another recent analysis (5), the studies reveal that genes in the hypoxia-inducible factor (HIF) oxygen signaling pathway have been subject to strong and recent positive selection in Tibetan highlanders.

School of Biological Sciences, University of Nebraska, Lincoln, NE 68588, USA.

E-mail: jstorz2{at}

Phenotypic plasticity in blood-oxygen transport in highland and lowland deer mice.
D. M. Tufts, I. G. Revsbech, Z. A. Cheviron, R. E. Weber, A. Fago, and J. F. Storz (2013)
J. Exp. Biol. 216, 1167-1173
   Abstract »    Full Text »    PDF »
Functional modulation of mitochondrial cytochrome c oxidase underlies adaptation to high-altitude hypoxia in a Tibetan migratory locust.
Z.-Y. Zhang, B. Chen, D.-J. Zhao, and L. Kang (2013)
Proc R Soc B 280, 20122758
   Abstract »    Full Text »    PDF »
Hypoxic Pulmonary Vasoconstriction.
J. T. Sylvester, L. A. Shimoda, P. I. Aaronson, and J. P. T. Ward (2012)
Physiol Rev 92, 367-520
   Abstract »    Full Text »    PDF »
Giant sucking sound: can physiology fill the intellectual void left by the reductionists?.
M. J. Joyner (2011)
J Appl Physiol 111, 335-342
   Abstract »    Full Text »    PDF »
Phenotypic plasticity and genetic adaptation to high-altitude hypoxia in vertebrates.
J. F. Storz, G. R. Scott, and Z. A. Cheviron (2010)
J. Exp. Biol. 213, 4125-4136
   Abstract »    Full Text »    PDF »
EGLN1 involvement in high-altitude adaptation revealed through genetic analysis of extreme constitution types defined in Ayurveda.
S. Aggarwal, S. Negi, P. Jha, P. K. Singh, T. Stobdan, M. A. Q. Pasha, S. Ghosh, A. Agrawal, Indian Genome Variation Consortium, B. Prasher, et al. (2010)
PNAS 107, 18961-18966
   Abstract »    Full Text »    PDF »

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